ty -jour t1- sftpa1 和 sftpa2 突变的功能评估和表型异质性在间质性肺部疾病中和肺癌JF-欧洲呼吸杂志 -13993003.02806-2020 VL -56 IS -6 SP -2002806 AU -LEGENDRE，LEGENDRE，MARIE AU -BUTT，AFIFAA AU -BORIE -BORIE，RAPHAëlAu -DeBray -Marie -Pierre au -Bouvry -Bouvry，Bouvry，Diane au -diane au- diane au -filhol -filhol -filhol -filhol -filhol -emilie au -emilie au -desrosroziers，Tifenn AU - Nau, Valérie AU - Copin, Bruno AU - Dastot-Le Moal, Florence AU - Héry, Mélanie AU - Duquesnoy, Philippe AU - Allou, Nathalie AU - Bergeron, Anne AU - Bermudez, Julien AU - Cazes, Aurélie AU- Chene, Anne-Laure AU - Cottin, Vincent AU - Crestani, Bruno AU - Dalphin, Jean-Charles AU - Dombret, Christine AU - Doray, Bérénice AU - Dupin, Clairelyne AU - Giraud, Violaine AU - Gondouin, Anne AU -Gouya，Laurent au -Israël -Biet，Dominique au -Kannengiesser，Caroline Au -Le Borgne，AurélieAu -Leroy -Leroy，Sylvie Au -Longchampt，Elisabeth Au -Lorillon，Lorillon，GwenaëlAu -Nun -Nun -Nun -Nun -Nun -Nun -NunES，Hilario au -Picard，ClémentAu -Reynaud -Gaubert，Martine au -Traclet，Julie Au -de Vuyst，Paul Au -Coulomb L'Hermine，Aurore au au au -clement -clement，Annick au -amnick au -amselem，Amselem，Serge au- Nathan，Nathan，Nathan，Nadia Y1 Y1 Y1 Y1 Y1 Y1 Y1 Y1 Y1 Y1 Y1 Y1 Y1 Y1 Y1 Y1 Y1 Y1 Y1 Y1-2020/12/01 ur -http：//www.qdcxjkg.com/content/56/6/6/2002806.Abstract N2-简介室间肺肺部疾病（ILDS）可能是由SftPA1和SFTPA2基因的突变引起的表面活性剂蛋白（SP）复合物SP-A。迄今为止，在全球范围内仅报道了11个SFTPA1或SFTPA2突变，其中有5个已在功能上进行了评估。在ILD分子诊断的框架中，我们确定了14例致病性SFTPA1或SFTPA2突变的独立患者。本研究旨在在功能上评估所鉴定的11种不同突变，并准确地描述患者及其受影响的亲属的疾病表型。方法通过研究了11个SFTPA1或SFTPA2突变的后果，通过研究，通过研究研究和分泌的生产和分泌。 the corresponding mutated proteins and ex vivo, by analysing SP-A expression in lung tissue samples. The associated disease phenotypes were documented.Results For the 11 identified mutations, protein production was preserved but secretion was abolished. The expression pattern of lung SP-A available in six patients was altered and the family history reported ILD and/or lung adenocarcinoma in 13 out of 14 families (93%). Among the 28 SFTPA1 or SFTPA2 mutation carriers, the mean age at ILD onset was 45 years (range 0.6–65 years) and 48% underwent lung transplantation (mean age 51 years). Seven carriers were asymptomatic.Discussion This study, which expands the molecular and clinical spectrum of SP-A disorders, shows that pathogenic SFTPA1 or SFTPA2 mutations share similar consequences for SP-A secretion in cell models and in lung tissue immunostaining, whereas they are associated with a highly variable phenotypic expression of disease, ranging from severe forms requiring lung transplantation to incomplete penetrance.SFTPA1 and SFTPA2 mutations lead to similar alterations in SP-A secretion and lung tissue expression. They are associated with a highly variable phenotypic expression ranging from incomplete penetrance to severe interstitial lung diseases and lung cancer. https://bit.ly/30SrEVb ER -